ClinVar Miner

List of variants studied for Heart disease

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1703G>T (p.Gly568Val) rs71581017 0.00018
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077

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